Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Issue 24 (14th June 2016)

• Record Type: Journal Article
• Authors: Isselbacher, Eric M.; Lino Cardenas, Christian Lacks; Lindsay, Mark E.
• Is Part Of: Circulation. Volume 133:Issue 24(2016)
• Publication Date: 2016-06-14
• Subjects: aorta -- aortic disease -- Marfan syndrome; Blood -- Circulation -- Periodicals; Cardiovascular system -- Periodicals; Cardiology -- Periodicals; Heart -- Diseases -- Periodicals; Blood Circulation; Cardiovascular System; Vascular Diseases; 616.1
• DOI: 10.1161/CIRCULATIONAHA.116.009762
• Languages: English
• ISSNs: 0009-7322

Abstract

Abstract : Thoracic aortic aneurysm is a potentially life-threatening condition in that it places patients at risk for aortic dissection or rupture. However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite limited. A genetic predisposition to thoracic aortic aneurysm has been established, and gene discovery in affected families has identified several major categories of gene alterations. The first involves mutations in genes encoding various components of the transforming growth factor beta (TGF-β) signaling cascade ( FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3 and SKI ), and these conditions are known collectively as the TGF-β vasculopathies. The second set of genes encode components of the smooth muscle contractile apparatus ( ACTA2, MYH11, MYLK, and PRKG1 ), a group called the smooth muscle contraction vasculopathies. Mechanistic hypotheses based on these discoveries have shaped rational therapies, some of which are under clinical evaluation. This review discusses published data on genes involved in thoracic aortic aneurysm and attempts to explain divergent hypotheses of aneurysm origin. Abstract : Supplemental Digital Content is available in the text.